List of variants in gene AICDA reported as likely pathogenic for Hyper-IgM syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)	rs193922703	0.00003
NM_020661.4(AICDA):c.260G>C (p.Cys87Ser)	rs1260264247	0.00002
NM_020661.4(AICDA):c.71G>A (p.Arg24Gln)	rs886923939	0.00002
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)	rs193922704	0.00001
NM_020661.4(AICDA):c.544-2A>G	rs772388034	0.00001
NM_020661.4(AICDA):c.169G>A (p.Val57Met)	rs786205474
NM_020661.4(AICDA):c.274C>T (p.Arg92Ter)	rs1227905250
NM_020661.4(AICDA):c.293T>G (p.Leu98Arg)
NM_020661.4(AICDA):c.403C>T (p.Gln135Ter)	rs2136431608
NM_020661.4(AICDA):c.417G>T (p.Met139Ile)	rs1591744217
NM_020661.4(AICDA):c.427+1G>A
NM_020661.4(AICDA):c.45C>G (p.Phe15Leu)	rs2136433359
NM_020661.4(AICDA):c.568C>T (p.Arg190Ter)	rs769399833
NM_020661.4(AICDA):c.8+1G>C

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